Canonical Allele Identifier: PA2828498611
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 450327
ClinVar RCV Id: RCV000519228
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361238.1:p.Gly222Asp
CA374933892
NM_001374309.2:c.665G>A